Bone Abstracts

Gaucher disease (GD) is a lysosomal storage disorder due to deficiency of glucocerebrosidase, leading to glucocerebroside storage mainly in macrophages, but also in other cells (lymphocytes, osteoblasts, and neurons).Clinically important bone manifestations of GD include severe acute ‘bone crisis’ (acute avascular osteonecrosis), medullary infarction, osteopenia or osteoporosis, osteolytic lesions, pathologic fractures, defective bone remodelli...

Biographical DetailsMaja Di Rocco, MD, is Head of the Unit of Rare Diseases, Department of Pediatrics, at the IRCCS Gaslini, Genoa, Italy, and a professor of metabolic diseases at the Postgraduate Schools of Pediatrics, Medical Genetics, and Pediatric Neurology and Psychiatry at the University of Genoa. She graduated in medicine and surgery from the University of Genoa in 1979, before com...

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

Objective: FOP is a rare, severely disabling disease characterized by episodic flare-ups and accumulation of heterotopic ossification (HO) leading to restricted movement, physical disability, and early death. Data from two Phase 2 interventional studies and one natural history study (NHS) were used to evaluate whether palovarotene could reduce HO following an FOP flare-up.Methods: HO volume at the flare-up site was determined by CT at baseline and 12 wee...